DNAH11 A568T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

DNAH11 A568T

(DNAH11 Ala568Thr)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr7:21621631: 4.2% (402/9468) in EVS
  • A @ chr7:21588155: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.2% (402/9468)

Publications
 

Genomes
 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr7:21621631

 

 

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr7:21588156

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr7:21588156

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr7:21588156

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr7:21588156

 

Other external references
 

    dbSNP
  • rs72655988
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DNAH11 gene
    Primary Ciliary Dyskinesia
    Primary Ciliary Dyskinesia 7: DNAH11-Related Primary Ciliary Dys
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DNAH11

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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